Results 71 to 80 of about 5,463 (156)

Emerging directions in tauopathy research

open access: yesAlzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract The Tau Global Conference 2025, hosted by the Alzheimer's Association, CurePSP, and the Rainwater Charitable Foundation, convened international experts from academia, industry, government, and philanthropy to explore advances and challenges in tauopathy research. The meeting highlighted progress across tau biology, including emerging models of
Luc Buée   +41 more
wiley   +1 more source

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45

open access: yesTremor and Other Hyperkinetic Movements, 2017
Background: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently ...
Andreas Hermann   +7 more
doaj   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli   +4 more
wiley   +1 more source

Improving the clinical trial landscape for patients with atypical variants of Alzheimer's disease: a call to action

open access: yesAlzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract Patients with atypical variants of Alzheimer's disease (AD) often present at a younger age with predominantly non‐amnestic impairments and a more aggressive disease course. Historically, individuals with atypical presentations have not been included in large‐scale clinical trials, which typically focus on late‐onset, sporadic amnestic ...
Nick Corriveau‐Lecavalier   +36 more
wiley   +1 more source

Basal ganglia function in parkinsonism and dystonia [PDF]

open access: yes, 2022
Parkinsonism and dystonia are movement disorders linked with abnormal function of the basal ganglia. The most common cause of parkinsonism, Parkinson’s disease (PD), is caused by loss of dopaminergic neurons in the nigrostriatal tract, leading to ...
Honkanen, Emma
core  

Systematic assessment of the mouse TATA-box binding protein-associated factor 1 locus reveals novel messenger RNA isoforms and differential protein distribution across brain regions [PDF]

open access: yesRoyal Society Open Science
TATA-box binding protein-associated factor 1 (TAF1) is the largest component of transcription factor IID, a fundamental multi-protein complex for RNA polymerase II-mediated transcription.
Peihang Li   +5 more
doaj   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, Volume 99, Issue 6, Page 1363-1378, June 2026.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Brain–Computer Interfaces: The Dawn of a New Era in Disease Treatment

open access: yesExploration, Volume 6, Issue 3, June 2026.
This study investigates the potential of brain–computer interface (BCI) technology in treating neuropsychiatric disorders, such as movement and communication barriers. Our review examines the history, signal paradigms, and diverse applications of BCI while also discussing ongoing research into novel materials and emerging technologies that offer ...
Yuqi Feng   +11 more
wiley   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

open access: yesMovement Disorders Clinical Practice, Volume 13, Issue 6, Page 1383-1398, June 2026.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan   +4 more
wiley   +1 more source

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

open access: yes, 2017
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease endemic to the Philippines. We integrated genome and transcriptome assembly with induced pluripotent stem cell-based modeling to identify the XDP causal locus and potential ...
Yechiam Sapir   +27 more
core   +1 more source

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